A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15763068



Internal ID22097551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937711..174937711hg38UCSC Ensembl
chr1:174906848..174906848hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4448151
Supporting Variants
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15763068
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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